G75W (p.Gly75Trp) variant of COL1A2 (Collagen alpha-2(I) chain)
G75W (p.Gly75Trp) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Osteogenesis imperfecta. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G75W (p.Gly75Trp) variant details
- p.Gly75Trp
- rs2115860730
- ClinGen CA368219277
- ClinVar RCV002277778
- Ensembl rs2115860730
- Uncertain significance
- Osteogenesis imperfecta
- Missense
- Variant Prioritization Score for Impact Estimate 0.991
- MutPred 0.99
- ClinVar: Uncertain significance (Osteogenesis imperfecta)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)